Gut folate conjugase congenital deficiency

This is a rare form of congenital megaloblastic anaemia caused by a defect in folate transport both across the gut and the blood-brain barrier It is characterized by a profound deficiency of folate in plasma and nervous system (CSF). An anaemia is generally associated with a history of fever, diarrhea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Treatment with oral folic acid cures the anaemia, diarrhea and infections but fails to prevent convulsions and the appearance of mental retardation and cerebral calcifications.